You searched for "genetic"
Bosch-Boonstro-Schaaff optic atrophy syndrome (BBSOAS) NR2F1 mutation
An experienced ophthalmologist can make an anatomical diagnosis of childhood visual impairment based upon the surgical sieve, i.e., congenital and acquired. But an ophthalmologist cannot work in isolation to make an aetiological diagnosis – one would require the help of...
Features of idiopathic versus non-idiopathic ocular motor apraxia
The aim of this study was to describe the characteristics and outcomes of ocular motor apraxia (OMA) in a paediatric neuro-ophthalmology clinic over 10 years. This was a retrospective case review and included 37 patients of which 46% were idiopathic...
Macular pigment in relatives of AMD patients
Blue light causes photo-oxidative retinal injury and macular pigment (MP), with lutein, zeaxanthin and mesozeaxanthin as the main components, as a filter that protects the macula from this damage. Previous studies indicated that low levels of macular pigment optical density...
Functional visual field loss using automated static perimetry
Functional visual field loss is traditionally assessed by kinetic perimetry, typically producing spiralling isopters. This study looked at the spatial distributions of functional field deficits using automated static perimetry. A retrospective review of automated perimetry records was conducted using a...A short survey of the views of clinicians on the role of procedure-specific consent forms
Informed consent is an ethical and legal right of every patient [1]. It is essential that patients receive clear, concise and accurate information regarding the risks, benefits and alternatives to a potential intervention. In addition to this, the patient must...UK Paediatric Glaucoma Society Annual Meeting 2025
by Hussain Aluzri, Junior Glaucoma Cinical Research Fellow, Birmingham Midland Eye Centre, UK. The UKPGS 2025 conference was another resounding success, held on 24 January 2025 at the Cavendish Conference Centre, London. The event commenced with an opening address by...Should we move towards procedure-specific consent forms?
The consent process represents the patient’s acceptance of the information provided to them and an agreement to undergo an intervention as suggested by a health professional. Effective doctor-patient communication, ensuring the succinct delivery of the necessary points in a way...
Recommendation for wide angle fluorescein angiography to diagnose FEVR in NEDSDV
Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) is a genetic disease described in 2012 associated with variants in the CTNNB1 gene which encodes beta-catenin. Characteristics include strabismus, reduced visual acuity and familial exudative retinopathy (FEVR). In this study,...
Visual prognosis in Irish Leber’s hereditary optic neuropathy
Leber’s hereditary optic neuropathy (LHON) is an inherited optic neuropathy This paper presents a retrospective review of clinical data from patients with LHON presenting to an Irish tertiary referral ophthalmic hospital. Clinical and genetic characteristics were assessed for useful biomarkers...
Health-related quality of life after cataract surgery
This prospective study evaluates the impact of cataract surgery on subjects’ health-related quality of life (HRQoL) measured with a 15-dimension generic instrument, the 15D. The HRQoL of cataract subjects was compared with that of an age- and gender-standardised sample of...
